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Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Sancho, Paula; Bartesaghi, Luca; Miossec, Olivia; García-García, Francisco; Ramírez-Jiménez, Laura; Siddell, Anna; Åkesson, Elisabet; Hedlund, Eva; Lassuthová, Petra; Pascual-Pascual, Samuel I; Sevilla, Teresa; Kennerson, Marina; Lupo, Vincenzo; Chrast, Roman; Espinós, Carmen.
Afiliação
  • Sancho P; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Bartesaghi L; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Miossec O; Department of Clinical Neuroscience, Karolinska Institutet, 17165 Stockholm, Sweden.
  • García-García F; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Ramírez-Jiménez L; Department of Clinical Neuroscience, Karolinska Institutet, 17165 Stockholm, Sweden.
  • Siddell A; Unit of Bioinformatics and Biostatistics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Åkesson E; Department of Genomics and Translational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Hedlund E; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord NSW, Australia.
  • Lassuthová P; Sydney Medical School, University of Sydney, Sydney NSW, Australia.
  • Pascual-Pascual SI; Division of Neurodegeneration, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
  • Sevilla T; The R&D Unit, Stiftelsen Stockholms Sjukhemm, 14152, Sweden.
  • Kennerson M; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Lupo V; Department of Pediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
  • Chrast R; Department of Pediatric Neurology, Hospital Universitario La Paz, Madrid, Spain.
  • Espinós C; Department of Neurology, Hospital Universitari i Politècnic La Fe, and CIBER of Rare Diseases (CIBERER), Valencia, Spain.
Hum Mol Genet ; 28(10): 1629-1644, 2019 05 15.
Article em En | MEDLINE | ID: mdl-30624633
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células Receptoras Sensoriais / Axônios / Fatores de Transcrição / Doença de Charcot-Marie-Tooth Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Espanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células Receptoras Sensoriais / Axônios / Fatores de Transcrição / Doença de Charcot-Marie-Tooth Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Espanha